Canonical Allele Identifier: CA372290198

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 941355
• ClinVar RCV Id: RCV001211125
• dbSNP Id: rs1826476981
• MyVariant Identifiers: chr8:g.133186560G>C (hg19) ; chr8:g.132174313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174313G>C , CM000670.2:g.132174313G>C	GRCh38
NC_000008.10:g.133186560G>C , CM000670.1:g.133186560G>C	GRCh37
NC_000008.9:g.133255742G>C	NCBI36
NG_008854.2:g.311445C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.970C>G MANE Select	ENSP00000373648.3:p.Pro324Ala
ENST00000521134.6:c.610C>G	ENSP00000429799.1:p.Pro204Ala
ENST00000638588.1:c.643C>G	ENSP00000491940.1:p.Pro215Ala
ENST00000639358.1:c.620C>G
ENST00000639496.1:c.643C>G	ENSP00000491165.1:p.Pro215Ala
ENST00000388996.8:c.970C>G	ENSP00000373648.3:p.Pro324Ala
ENST00000519445.5:c.970C>G	ENSP00000428790.1:p.Pro324Ala
ENST00000519589.1:n.748C>G
ENST00000521134.5:c.610C>G	ENSP00000429799.1:p.Pro204Ala
ENST00000621976.1:c.607C>G	ENSP00000482510.1:p.Pro203Ala
NM_001204824.1:c.610C>G	NP_001191753.1:p.Pro204Ala
NM_004519.3:c.970C>G	NP_004510.1:p.Pro324Ala
XM_005250914.2:c.-187C>G	XP_005250971.1:n.-187C>G
XM_006716555.2:c.262C>G	XP_006716618.1:p.Pro88Ala
XM_011517026.1:c.610C>G	XP_011515328.1:p.Pro204Ala
XM_005250914.3:c.-187C>G	XP_005250971.1:n.-187C>G
XM_006716555.3:c.262C>G	XP_006716618.1:p.Pro88Ala
XM_011517026.2:c.610C>G	XP_011515328.1:p.Pro204Ala
XM_017013400.1:c.748C>G	XP_016868889.1:p.Pro250Ala
NM_004519.4:c.970C>G MANE Select	NP_004510.1:p.Pro324Ala
NM_001204824.2:c.610C>G	NP_001191753.1:p.Pro204Ala